DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 ×

Gene: SCN1A ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs970867558

SCN1A ; SCN1A-AS1

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1131691773

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

dbSNP:

rs121918627

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.800

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121918626

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.800

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121918623

SCN1A ; SCN1A-AS1

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.800

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121918622

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.800

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121917971

SCN1A ; SCN1A-AS1

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.800

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121917955

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.800

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121917954

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.800

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121917953

SCN1A ; SCN1A-AS1

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.800

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121917930

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.800

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs575368466

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs398123588

SCN1A ; SCN1A-AS1

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs140731963

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121918815

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121918814

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121918813

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121918812

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121918811

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121918805

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121918801

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121918784

SCN1A ; SCN1A-AS1

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121918783

SCN1A ; SCN1A-AS1 ; LOC102724058

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121918782

SCN1A ; SCN1A-AS1

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000

dbSNP:

rs121918781

SCN1A ; SCN1A-AS1

CUI:	C1858673
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

GeneticVariation

UNIPROT

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

10742094

2000